GenTIGS

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by inheritance mode

S.No.	Genetic Disorders Modes of inheritance	Category	Gene symbol	Indian context	Links
451	Primary hypomagnesemia Autosomal recessive	Metabolic disorders	CLDN16 claudin 16	Reports Updated as of Jul 20, 2024	PubMed
452	Primary progressive non fluent aphasia	Neurodegenerative disorders	TBK1 TANK binding kinase 1	Reports Updated as of Jan 04, 2024	PubMed
453	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Autosomal dominant	Metabolic disorders	RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B	Reports Updated as of Jul 20, 2024	PubMed
454	Progressive familial intrahepatic cholestasis type 2 Autosomal recessive	Liver disorders	ABCB11 ATP binding cassette subfamily B member 11	Reports Updated as of Jan 05, 2026	PubMed
455	Progressive myositis ossificans Autosomal dominant	Neuromuscular disorders	ACVR1 activin A receptor type 1	Reports Updated as of Feb 01, 2025	PubMed
456	Progressive osseous heteroplasia Autosomal dominant	Bone disorders	GNAS GNAS complex locus	Reports Updated as of Jan 04, 2024	PubMed
457	Progressive Pseudorheumatoid Dysplasia Autosomal recessive	Bone disorders	CCN6 cellular communication network factor 6	Reports Updated as of Sep 05, 2023	PubMed
458	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Autosomal recessive	Bone disorders	RSPRY1 ring finger and SPRY domain containing 1	Reports Updated as of Jan 05, 2026	PubMed
459	Prolactin-producing pituitary gland adenoma Autosomal dominant	Endocrine disorders	LRP2 LDL receptor related protein 2	Reports Updated as of Jan 04, 2024	PubMed
460	Prolidase deficiency Autosomal recessive	Metabolic disorders	PEPD peptidase D	Reports Updated as of Jan 04, 2024	PubMed

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